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Research projects
BELGIUM
OOST-VLAANDEREN
GENT
Characterization of HINT1 knockout fly model for peripheral neuropathy
VIB headquarters
VIB (vlaams instituut voor biotechnologie) headquarters
FINLAND
Finland
HELSINKI
Genetic causes of axon degeneration diseases axonal Charcot-Marie-Tooth neuropathy (CMT2) and hereditary spastic paraplegia
University of Helsinki
Stem Cells and Metabolism Research Program
FINLAND
Finland
HELSINKI
Hereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program
FRANCE
ILE-DE-FRANCE
GIF-SUR-YVETTE
Core Molecular Mechanisms and Lipid Determinants of Mitofusin-mediated Mitochondrial Fusion
Institut de Biologie Intégrative de la Cellule (I2BC)
Lipid trafficking and membrane contact sites
FRANCE
ILE-DE-FRANCE
PARIS
Genetical basis of Charcot-Marie-Tooth disease and hereditary neuropathies
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"
FRANCE
NOUVELLE AQUITAINE
LIMOGES
Innovative strategy aimed at treating Charcot-Marie-Tooth patients: in vitro screening of read-through molecules using iPSc and CRISPR-Cas9 technologies
Université de Limoges
Équipe Maintenance Myélinique et Neuropathies Périphériques (MMNP)
HUNGARY
Közép-Magyarország
BUDAPEST
Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALY
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Misglycosylation in Charcot-Marie-Tooth neuropathies associated to MPZ mutations
Institution: Information not provided - IT
ITALY
LOMBARDIA
MILANO
Targeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina
ITALY
LOMBARDIA
MILANO
Role of the ER stress transcription factor XBP1 in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina
SPAIN
Comunidad Valenciana
VALENCIA
Genotypical and phenotypical characterization in a series of patients with late-onset hereditary neuropathies
Hospital Universitario y Politécnico La Fe
Unidad de Patología Neuromuscular
SWEDEN
Region Stockholm
ADDRESS: NOT PROVIDED - SE
The role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease
Institution: Information not provided - SE
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A resource for mouse models of peripheral neuropathy
Institution: Information not provided - US
SPAIN
Cataluña
BARCELONA
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas
SPAIN
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
FRANCE
NOUVELLE AQUITAINE
LIMOGES
Development of a nanoparticle curcumin-based treatment for patients with peripheral neuropathies
Université de Limoges
Équipe Maintenance Myélinique et Neuropathies Périphériques (MMNP)
ITALY
VENETO
PADOVA
Linking Cx32 hemichannel dysfunction to Charcot-Marie-Tooth disease pathogenesis
Venetian Institute of Molecular Medicine
Centro di Ricerca della Fondazione per la Ricerca Biomedica Avanzata
SPAIN
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
SPAIN
Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
CYPRUS
Cyprus
ADDRESS: NOT PROVIDED - CY
A gene therapy approach for treating CMT4C
Institution: Information not provided - CY
FRANCE
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
FRANCE
ILE-DE-FRANCE
PARIS
Search for Charcot-Marie-Tooth disease type 2 autosomal dominant causative genes (axonal and spinal forms)
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"
GERMANY
Baden-Württemberg
TÜBINGEN
TreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
GERMANY
Niedersachsen
OLDENBURG
TreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
LOMBARDIA
MILANO
Unravelling mechanisms of axonal loss in late-onset genetic neuropathies
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche
SPAIN
Comunidad Valenciana
VALENCIA
Characterising new genes and protein biomarkers to progress in the diagnosis, prognosis and therapy of axonal hereditary neuropathy (CMT2)
Centro de Investigación Príncipe Felipe (CIPF)
Servicio de Genómica y Genética Traslacional
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
BELGIUM
VLAAMS BRABANT
LEUVEN
Identification of therapies targeting lipid metabolism & myelination for Charcot-Marie-Tooth disease type 1A using patient derived Schwann cells
UZ Leuven - Campus Gasthuisberg
Ludo Van Den Bosch Lab- VIB-KU Leuven Center for Brain & Disease Research
CANADA
Ontario
WINDSOR
Molecular mechanisms regulating the myotubularin-related 2 lipid phosphatase mutated in the neuromuscular disorder Charcot-Marie Tooth disease
University of Windsor
Department of Chemistry & Biochemistry
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Deciphering the dominant active mechanism of mitofusin alleles associated with Charcot-Marie-Tooth type 2A disease
Institution: Information not provided - FR
FRANCE
GRAND-EST
STRASBOURG
Study of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models
Génétique Moléculaire Génomique Microbiologie - GMGM
Trafic membranaire et signalisation lipidique
FRANCE
ILE-DE-FRANCE
PARIS
Search for phenotype modifier genes in Charcot-Marie-Tooth 1A
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"
FRANCE
OCCITANIE
TOULOUSE
Identification of phospholipid effectors and potential biomarkers in Charcot-Marie-Tooth type 4B neuropathie
CHU de Toulouse - Hôpital Purpan
Département oncogenèse, signalisation et innovation thérapeutique
FRANCE
PAYS DE LA LOIRE
ANGERS
Metabolomic exploration of dysregulated lipid metabolism in MFN2-related CMT2A
CHU d'Angers
Centre de Référence des Maladies Neuromusculaires
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Characterizing Charcot-Marie-Tooth disease-associated alleles of mitofusin with enhanced mitochondrial fusion activity and interfering with their neurotoxicity in vivo
Parc scientifique et technologiques de Luminy
IBDM - Institut de Biologie du Développement de Marseille
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
CMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules
Université de médecine Aix-Marseille Université
Thérapie des Maladies Génétiques (EA 1263)
ITALY
LAZIO
ROMA
Charcot-Marie-Tooth type 2B: Role of the Rab7 GTPase and of Rab7 interacting proteins
Fondazione Telethon
ITALY
LIGURIA
GENOVA
An in vitro model of myelin protein zero mutations in schwann cells: from pathogenesis to therapy
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili
ITALY
LOMBARDIA
MILANO
Knockdown and Replacement of MFN2: a Gene Therapy to treat Dominantly Inherited Peripheral Neuropathy CMT2A
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche
ITALY
PUGLIA
LECCE
Charcot-Marie-Tooth type 2B: Role of the Rab7 GTPase and of Rab7 interacting proteins
Università degli Studi del Salento
Dipartimento di Scienze e Tecnologie Biologiche ed Ambientali
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Folding; misfolding; and function of pmp22
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Transcriptional and translational profiling of motor neurons in two mouse models of charcot-marie-tooth disease type 2d
Institution: Information not provided - US
Multicentric Research projects
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Neurogenetik
- ISCIII - Instituto de Salud Carlos III
- Centro de Investigación Biomédica en Red de Enfermedades Raras
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Department für Augenheilkunde Tübingen
- Molekulargenetisches Labor
- Projektträger im Deutschen Zentrum für Luft- und Raumfahrt
- ERA-Net for research programs on rare diseases - Germany
- Haukeland University Hospital
- Institution: Information not provided - CA
- IRCCS Ospedale San Raffaele
- Istituto di Neurologia Sperimentale - Unità di Ricerca per la Clinica Pediatrica
GERMANY
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
GERMANY
Niedersachsen
GÖTTINGEN
CMT-NRG: Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease)
SPAIN
Madrid
MADRID
An integrative approach to develop cellular models and characterize disease mechanisms implicated in CMT2Z, a newly described axonal form of neuropathy
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
GERMANY
Baden-Württemberg
TÜBINGEN
TreatOPON: Preclinical Development of Treatments for OPA1-linked Optic Neuropathies
GERMANY
Nordrhein-Westfalen
BONN
TreatOPON: Preclinical Development of Treatments for OPA1-linked Optic Neuropathies
NORWAY
Vestlandet
BERGEN
NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
CANADA
Québec
ADDRESS: NOT PROVIDED - CA
TREAT-MTMs: Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism
ITALY
LOMBARDIA
MILANO